P779: PLA2G6-associated neurodegeneration: Prenatal counseling and diagnostic testing in a couple heterozygous for a pathogenic variant
Abstract
The patient and her partner were counseled regarding the results of diagnostic testing and that the fetus was expected to be unaffected by PLA2G6-associated neurodegeneration. They opted to continue the pregnancy. She has been receiving routine prenatal care from her obstetric team.
Fields of Study & Subjects
Neurological diseases and metabolism
Metabolism and Genetic Disorders
Prenatal Screening and Diagnostics
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104271–104271
- Publication date
- 1 January 2026
- Language
- EN